Biomedical subjects
Publications and source records attributed to V Dimitrova.
A case of acute intermittent porphyria [AIP] known before pregnancy is reported in a patient who delivered by elective caesarean section. The pathogenesis of the disease, its symptoms and diagnosis are described as well as specific aspects of its clinical manifestation and differential diagnosis during pregnancy The therapeutic approach both during and out of pregnancy is discussed.
AIM: To assess the feasibility of nuchal translucency [NT] measurement as a screening tool for Down syndrome [DS] and other chromosomal anomalies [ChA] between 11-14 weeks of gestation [w.g.]. MATERIALS AND METHODS: A longitudinal prospective follow up study was carried out at a tertiary referral center including 408 singleton pregnancies between 11+0 and 14+0 w.g. Three experienced sonographers performed transabdominal and/or transvaginal scans using high-resolution ultrasound equipment. The ultrasound examinations included assessment of fetal number and viability, NT measurement and fetal anatomy survey. Down syndrome [DS] risk was calculated using the specialized computer program provided by the Fetal Medicine Foundation [FMF], UK. In cases of estimated DS risk > or = 1:300 invasive prenatal diagnosis was offered--chorionic villus sampling [CVS] between 11-14 w.g. or amniocentesis [AC] after 15 w. g., as well as follow-up scans including fetal echocardiography. The samples were tested by cytogenetic analysis, DNA analysis and/or FISH. When chromosomal fetal abnormality was detected termination of pregnancy was an option. Pregnancy outcome was ascertained from hospital records, referring physicians or the patients themselves. RESULTS: 108 (26%) out of the 408 women were ?35 years and 300 (74%)--below that age. A total number of 9 fetal chromosomal anomalies [ChA] were found including 6 cases with DS, 2--with trisomy 18 [T18] and 1--with Turner syndrome. The overall sensitivity for DS was 66.7% for a false-positive rate [FPR] of 13.4%. The figures for all ChA were 77.7% and 12.8%, respectively. All three cases of ChA other than DS were in the screen-positive group. The overall sensitivity and FPR for ChA for patients > or = 35 years was 80% and 35%, while for patients < 35 years it was 75% and 5.1 %, respectively. Diagnostic invasive procedures were performed in 50 out of 58 screen-positive cases, including 7 of the cases with ChA. In all 7 cases with prenatal diagnosis of fetal ChA the parents chose to terminate the pregnancy. CONCLUSIONS: First trimester DS screening by NT measurement has high sensitivity and specificity. Screening for other chromosomal abnormalities missed by second trimester biochemical serum tests is also possible. Invasive prenatal diagnosis is performed at an early gestational age when termination of affected pregnancies by D&C is still an option. Other important advantages are the possibility of screening for ChA in multiple gestations, as well as early diagnosis of major fetal anomalies.
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common myopathy. It is characterized by progressive descendent involvement of facial, shoulder girdle, truncal and lower extremities muscles. FSHD locus was mapped on the terminal part of the long arm of chromosome 4 (4q35). The disease is caused by a deletion of an integral number of tandem D4Z4 repeats and dimension of the pathological fragments < or = 38kb. Prenatal diagnosis of FSHD is possible but it is potentially difficult because of the big amount and high quality of DNA required. Hereby we describe the first prenatal tests performed for a Bulgarian family.
Nuchal translucency (NT) measurement between 11-14 weeks of gestation is an effective method of ultrasound screening for chromosomal fetal anomalies. The aim of the present study is to construct normal reference ranges of NT thickness for the Bulgarian population. The choice of cut-off NT thickness above which an invasive procedure should be offered is discussed.
AIM: To assess the clinical significance of inherited thrombophilia [IT] for the development of some pregnancy complications. MATERIAL AND METHODS: The incidence of the following factors was studied in 97 pregnant women with pregnancy complications and in 103 controls: R506Q mutation encoding Factor V Leiden [FVL] synthesis, Prothrombin G20210A mutation, T677 methylenetetrahydropholate reductase mutation [MTHFR], 4G/4G polymorphism of the plasminogen activator inhibitor [PAI 4G/4G]. Among 97 patients in the group studied 39 had early onset severe preeclampsia [PE], 14--placental abruption [AP] without PE, 18--intrauterine growth restriction [IUGR] without PE, 12--stillbirth [SB] without PE, 14--habitual spontaneous abortions [HSA]. The control group included 103 clinically healthy pregnant women with at least one previous uneventful pregnancy, without history of thromboembolic disorders. In addition, patients with severe PE with and without IT were compared regarding g. a. and birthweight at delivery and intrauterine fetal loss rate. DNA analysis was performed according to internationally accepted standards. Pregnancy outcomes were ascertained from hospital records. Statistical significance (p < 0.05) was assessed by means of Student's t-test. RESULTS: FVL mutation was found in 23.7% (23/97) of the patients from the studied group and in 5.8% (6/103) of the controls. Prothrombin G20210A carriers were 11% (11/97) of the studied and 3.8% (4/103) of the controls, while with PAI 4G/4G polymorphism they were 30.9% (30/97) and 14.5% (15/103) respectively. MTHFR T677 was not more frequent in the studied group (8.2%) compared to the control one (29%). Eight of the patients (9.6%) were carriers of more than one mutation. In 22 cases with early onset severe PE and IT gestational age and birthweight at delivery were lower than in the cases with severe PE without IT while intrauterine fetal loss rate did not differ significantly between the two groups. CONCLUSIONS: Inherited thrombophilia is found more frequently in women with pregnancy complications like PE, IUGR, AP, SB, HSA. The incidence of homozygous MTHFR T677 is not higher in these cases. IT worsens the prognosis of severe PE. The diagnosis of IT is important since anithrombotic therapy has to be considered to protect the mother and the fetus.
AIM OF THE STUDY: 1) To analyze the frequency of complications after elective/planned [PCS] and emergency Cesarean section [ECS]; 2) To compare the types of complications in the two evaluated groups; 3) To analyze the possible risk factors for complications after elective and emergency procedures. METHODS: The study was retrospective, hospital-based one. Data regarding complications following Cesarean section [CS] that demanded transfer of the patients to The Clinic of High Infectious Risk, State University Hospital "Maichin Dom", Sofia and prolonged hospital stay (more than 7 days after the operation) were analyzed. The incidence of complications in 574 consecutive PCS and in 292 ECS was calculated. The type of the following complications was compared in the two groups: uterine infections (endo/mio/ metrophlebitis), wound infection, subfascial hematoma, residua, sepsis, pelvic thrombophlebitis. Statistical evaluation of the results was performed by Student's t-test with p<0.05 considered statistically significant. RESULTS: In 574 PCS the frequency of postoperative complications was 1,4% while in 292 ECS it was 2,05% (p>0.05). There was not significant difference in the distribution of the different types of postoperative complications in 34 cases with PCS and 33 cases with ECS. The percentage of patients with previous CS was significantly higher in the complicated cases with PCS compared to that with ECS. The two studied groups do not differ significantly regarding the type of skin incision, operator's qualification, blood loss, drainage of the subfascial space, accompanying diseases. CONCLUSIONS: Cesarean section constitutes a major surgical procedure characterised with morbidity even if performed as a planned procedure. The risk of complications seems to be higher in cases of repeated CS. Patients that demand CS without medical indications have to be informed and be aware of these facts.
AIM: The aim of the present survey is to analyze the attitude of pregnant women towards the possibilities of prenatal screening and diagnosis between 11-14 weeks of gestation (w.g.). MATERIAL AND METHODS: Overall 109 pregnant women, hospitalized in SBALAG "Maichin dom", received written information about the possibilities for prenatal screening and diagnosis between 11-14 w.g. and 16-20 w.g., as well as a comprehensive description of the potential advantages and disadvantages of the different approaches/methods of screening/diagnosis. Consequently, the patients were asked to answer 13 closed and semi-closed questions in an anonymous enquiry. RESULTS: Overall 97,2% (106/109) of the women agreed to perform an ultrasound examination for fetal nuchal translucency measurement as a screening tool for chromosomal anomalies between 11-14 w.g. Furthermore, 82,6% (90/109) preferred the option of first trimester biochemical screening, rather than screening in the second trimester. On the other hand only 62,4% (68/109) accepted chorionic villous sampling between 11-14 w.g. in comparison to 83,5% (91/109) who agreed to perform an amniocentesis between 16-20 w.g. CONCLUSION: The vast majority of women prefer prenatal screening programs to be scheduled in the first, rather than in the second trimester. However, most women would still choose for a relatively safer second trimester invasive procedure instead of the option of earlier prenatal diagnosis.
The antiphospholipid antibody syndrome (APLS) is multisystem, autoimmune disease, which is characterized by: thrombosis, obstetrics complications and thrombocytopenia. The two most clinically significant antiphospholipid antibodies (APLa) that are associated with recurrent pregnancy loss and thrombosis are anticardiolipin antibodies (ACL) and lupus anticoagulant (LA). The laboratory diagnosis is based on the presence of moderate to high positive ACL and/or LA. The inhibitory effect of antiphospholipid antibodies /APLa/ on trophoblast intercellular fusion, hormone production and invasion may cause pregnancy loss. Once placentation is established their thrombogenic action leads to decreased placental perfusion and subsequent infarction. The APLa--mediated inhibition of trophoblastic invasion and APLa--mediated vasculopathy in the placental bed arteries result in abnormal uterine artery /UA/ Doppler waveforms. The association between APLa and high resistance index /RI/ and/or diastolic notch /DN/ in the Doppler waveforms is high predictive for adverse pregnancy outcome, including pre-eclampsia/eclampsia, intrauterine growth retardation, placental abruption, intrauterine fetal death. Maternal treatment and careful monitoring of fetal well-being are mandatory in the management of these high-risk pregnancies.
AIM OF THE STUDY: To assess the feasibility of ultrasound screening and diagnosis of structural fetal anomalies at the 11-14 week scan. METHODS: An observational prospective follow up study from March 2000 till May 2003 was performed at three referral centers by seven experienced sonographers with high-resolution ultrasound equipment. 1135 singleton pregnancies between 11+0 and 14+6 weeks gestation (w.g.) participated in the study. The first trimester scan included assessment of fetal number, viability and biometry, nuchal translucency [NT] measurement and fetal anatomy survey performed according to standardized published protocols. Increased NT > or = 95th centile and/or diagnosis of structural fetal anomaly was considered as indication for invasive prenatal diagnosis, early fetal echocardiogram and follow-up scans, including a detailed fetal anomaly scan at 18-22 w.g. and a third scan at 28-32 w.g. Pregnancy outcome was ascertained from hospital records, referring physicians or the patients themselves. RESULTS: The overall prevalence of structural fetal anomalies in the present study was 4.6% (53/1135). 22% (12/53) of the structural anomalies were detected between 11-14 w.g. 9 of those had normal karyotype, and 3 were associated with chromosomal anomalies. Furthermore, 10 cases of increased NT, with or without non-immune hydrops fetalis, were associated with congenital heart disease, rare genetic syndromes and adverse pregnancy outcome later in gestation. The ultrasound detection rate of structural fetal anomalies in the present study increased from 22% (12/53), to 69% (37/53) and 79% (42/53) for the first trimester scan, the first and second trimester scans, and the combination of all three scans, respectively. 21% (11/53) of all structural fetal anomalies were missed by prenatal ultrasound. CONCLUSIONS: The first trimester scan is a method of choice for the diagnosis of major structural fetal anomalies. NT measurement is a useful screening test for chromosomal anomalies. In cases with increased NT subsequent development of congenital heart disease, rare genetic syndromes or adverse pregnancy outcome should be ruled out. At present, the second trimester scan constitutes an indispensable tool for the detection of most structural abnormalities. Even in advanced gestation the prenatal diagnosis of certain anomalies is difficult and often unfeasible.
AIM OF THE STUDY: To assess the feasibility of first trimester ultrasound screening for structural and chromosomal fetal anomalies in multiple gestations. METHODS: An observational prospective follow up study was carried out in 32 cases of multiple pregnancies. Two scans were scheduled in each case--the first, between 6-9 weeks of gestation (w.g.) and the second, between 11-14 w.g. The aim was assessment of fetal number, viability, chorionicity/amnionicity and fetal biometry. In addition, nuchal translucency [NT] measurement, assessment of risk for chromosomal anomalies and fetal anatomy survey were always performed. Increased NT > or = 95 percentile and/or detection of structural anomaly were considered indications for invasive prenatal diagnosis and fetal karyotyping. Selective fetocide was considered in cases of chromosomal or structural anomalies and in high-order multiple gestations (> or = 3 fetuses). Pregnancy outcome was ascertained by the physical examination of the fetuses, placentas and membranes postpartum, the hospital records, the referring physicians or the parents. RESULTS: From 32 cases of multiple pregnancies included in the study, 28 were twins, and 4--triplets. 68% (19/28) of the twin pregnancies were bichorionic-biamniotic [Bi-Bi], 25% (7/28)--monochorionic-biamniotic [Mo-Bi] and 7% (2/28)--monochorionic-monoamniotic [Mo-Mo]. 4 cases of increased NT in one of the twins (1--associated with trisomy 21) were observed, as well as 2 cases of structural fetal anomalies (1--discordant for exencephaly, and 1--with conjoint twins), 2 cases of feto-fetal transfusion syndrome that developed in the second trimester (1--associated with increased NT between 11-14 w.g.), 1 case of TRAP syndrome [twin-reversed arterial perfusion] and 1 case of cord entanglement in monoamniotic twins. In addition, there were 4 cases of a vanishing twin in the first trimester, and in 2 other cases spontaneous miscarriage of both twins occurred before 24 w.g. In two of the triplet pregnancies selective fetocide was performed, one was successfully delivered at 33 w.g. and in the last case the parents chose to terminate the pregnancy. CONCLUSIONS: First trimester ultrasound is a method of choice for detection of major structural fetal anomalies in multiple gestations. Increased NT between 11-14 w.g. in multiple pregnancies is a useful screening tool for detection of chromosomal fetal anomalies, while in monochorionic twins its presence might predict the development of fetofetal transfusion syndrome. First trimester selective fetocide in high-order multiple gestations or in affected twins is one of the options in pregnancy management.
A case of successful pregnancy outcome is reported in a patient with 3 preceding severe placental abruptions with intrauterine fetal death and caesarean deliveries. In the course of the current pregnancy heterozygosity for R506Q mutation of factor V (Leiden) was diagnosed in 26 weeks of gestation [w.g.] and low molecular weight heparin [LMWH] therapy initiated. Maternal condition was stable until delivery and all laboratory findings were within normal range. The fetus was followed up by ultrasound biometry and Doppler blood flow studies. From 28 w.g. on NST and biophysical profile were included. An emergency caesarean section was performed in 34 w.g. because of contractions not responding to tocolysis. The newborn was in good condition with weight and length corresponding to the 10th centile for gestational age [g.a]. Histologic study of the placenta showed anemic infarctions and recent haemorrhages in the basal and the chorionic plate. The initiation of LMWH therapy in the case reported was late (26 w.g.). By that moment there was already evidence of impaired fetal growth with fetal biometry corresponding to the 10th centile for g.a. After LMWH therapy was started no further slow down of fetal growth was registered. Successful pregnancy outcome may be related not only to LMWH therapy but also to other factors like active fetal monitoring after 28 w.g. and the emergency caesarian delivery immediately after the onset of uterine contractions. Patients with past obstetric history of severe preeclampsia, placental abruption or fetal growth restriction have to be screened for hereditary or acquired thrombophilia. If a thrombophillic state is present early LMWH therapy has to be considered. It is aimed to prevent anaemic placental infarctions and thrombotic complications.
Pentalogy of Cantrell is a rare sporadic syndrome with unknown etiology including five major system organ malformations. We present a case of pentalogy of Cantrell associated with increased nuchal translucency [NT] which was diagnosed at 12+1 weeks of gestation [w.g]. Termination of pregnancy was performed at 12+3 w.g.
Early and late complications of nephrectomy include: chronic renal failure (CRF), haemorrhagic events, lumbar fistulas and other complications of different origin. This study covers 388 nephrectomies due to different diseases of the kidneys and the urethra. Clinical diagnosis and treatment of the patients are held at the Chair of Urology of the Alexandrovska Hospital for the period 1990-1995. There are established the following early and late complications: renal failure--in 37 patients (9.53%), haemorrhagic events--in 2 patients (0.51%), lumbar fistulas--in 4 patients (1.03%). Other complications are calculous anuria in 1 patient (0.25%), nephrectomy following plastic surgery of a kidney calyx--in 1 patient (0.25%), nephrectomy in a case with one functionally preserved kidney--1 patient (0.25%), nephrectomy in a case following kidney transplantation--1 patient (0.25%), and fatal outcome through the early postoperative period--in 2 patients (0.51%). Authors conclude that: 1) nephrectomy is followed by complications through the early and the late postoperative period; 2) complications following nephrectomy are rare but they are one of the most serious and important sequella in urologic surgery.
UNLABELLED: Cholangiocellular carcinoma is the second on rate primary liver cancer (7-10%), after hepatocellular carcinoma--(80-85%). The aim of this study is to present some diferrencies in clinical and pathological features in comparison to other liver tumors. MATERIALS AND METHODS: In the period 1991-2002 years, 105 patients with primary liver cancer were operated; 9 of them (8.5%) had cholangiocellular carcinoma (CCC). The men were 5, the women--4, and the mean age 51 years. Hepatic resection was performed in 5 patients, in 1--biliary drainage, in 3--explorative laparotomy. RESULTS: Until 30th postoperative day there was no death in resected patients, but one--the drained patient. Morbidity was: ascites, hepatocellular insuficiency, fever. One patient is alive more than 4 years. CONCLUSIONS: Cholangiocarcinoma affects young people, sometimes they are jaundiced; tumours become big, because asymptomatic grow. Hepatic resection remains to be the best therapeutical option in nonjaundiced patients.
The authors present their own variant of performing anastomoses between the common hepatic duct/right and left hepatic ducts and the jejunum in radical treatment of Klatskin tumors. The procedure is indicated in cases of proximal (hilar) resection of both hepatic ducts, in technical difficulties for performing the standard drainage protected end-to-side anastomosis between the right and left hepatic ducts on the one hand and the jejunum on the other as well as a method for double biliary derivation. The advantages of the procedure include decreased incidence rate of bile leakage in the subhepatic region, low risk of diffuse biliary peritonitis respectively and restricted possibility of intestinal reflux into the biliary tract.
The large liver cancers in the right lobe are difficult to be resected with conventional approach. We report for 2 cases--43 old year man with cholangiocellular carcinoma and 50-old year woman with metastatic liver tumor from breast cancer, both with diameter of 30 cm, successfully resected using nonconventional "anterior approach". The postoperative period was uneventful. They were discharged from hospital in 10 and 14 days.
Postoperative liver failure is a life-threatening complication after hepatic resection. The purpose of this study was to review the liver failure as a result of hepatic resection and to propose strategy for decreasing the risk of its developing. From January 1991 to December 2000 73 patients with primary liver cancer (PLC) were operated and identified in a retrospective database. Seven (13.2%) of resected 53 patients developed postoperative liver failure. There were 4 male and 3 female with mean age 52.3+/-29.2 (from 1 to 78). 3 patients had underlying cirrhosis. Major resections were 5 and minor--2. Mean hemotransfusion was 1012, 13 ml (370-2000 ml). Five patients (71%) died by the 30th day. The causes of liver failure were analyzed, based on both the preoperative data and the intraoperative findings. Significant prognostic factors were the preoperative serum level of bilirubin (p=0.024) and intraoperative hemotransfusion (0.031). The right hemihepatectomy was a prevalent hepatic resection in these patients.
The results from a pilot prospective study--second trimester Down syndrome [DS] serum screening between 15 and 21 w.g. with two markers (alpha-fetoprotein and free bb-hCG)--were summarised. Sensitivity, false-positive rate [FPR], positive predictive value [PPV] of the screen positive and negative predictive value [NPV] of the screen negative result for the sbgroups II and below 35 years of age were analysed. The uptake for invasive prenatal testing in screen positive patients and the percentage of terminated pregnancies with prenatally diagnosed DS fetuses as well as the ratio "lost unaffected pregnancies/1 DS fetus diagnosed antenatally" were also calculated. High sensitivity of the DS serum screening was achieved--75% and 87.5% in the subgroups below and II the age of 35 respectively with 6.6 and 31.7% FPR. With higher DS age risk the PPV of the screen positive test was higher and the NPV of the screen negative result--lower. The percentage of invasive prenatal testing in screen positive patients was high (average 83.4%) without significant differences in the two age subgroups. Pregnancy was terminated in all cases with antenatally diagnosed DS fetuses. The ratio "lost unaffected pregnancies/1 DS fetus diagnosed antenatally" for serum screening was lower compared to the same ratio when screening by age. The results from our pilot study (serum screening sensitivity and FPR, uptake for invasive testing in screen-positive cases) are comparable to the ones reported in literature. This is an important prerequisite for introduction of mass DS screening for our population.